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CTCTGTGGAACTGTCCAGACCTGCC[A/G]GGAGCTGCACCTGGGAAGCGAGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120240 MIM: 606806 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL6A2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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COL6A2 - collagen type VI alpha 2 | ||||||
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There are no transcripts associated with this gene. |
FTCD - formimidoyltransferase cyclodeaminase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320412.1 | 2760 | UTR 3 | NP_001307341.1 | |||
NM_006657.2 | 2760 | UTR 3 | NP_006648.1 | |||
NM_206965.1 | 2760 | Intron | NP_996848.1 | |||
XM_006723961.3 | 2760 | Intron | XP_006724024.2 | |||
XM_006723962.3 | 2760 | Intron | XP_006724025.2 | |||
XM_011529434.2 | 2760 | Missense Mutation | CCG,CTG | P,L 641 | XP_011527736.1 | |
XM_011529435.2 | 2760 | Missense Mutation | CCG,CTG | P,L 598 | XP_011527737.1 | |
XM_011529436.2 | 2760 | UTR 3 | XP_011527738.1 | |||
XM_011529437.2 | 2760 | UTR 3 | XP_011527739.1 | |||
XM_011529439.2 | 2760 | Missense Mutation | CCG,CTG | P,L 470 | XP_011527741.1 | |
XM_011529440.2 | 2760 | Intron | XP_011527742.1 |